A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family

Pourahmadiyan, Azam; Alipour, Paria; Fattahi, Najmeh; Kasiri, Mahbubeh; Rezaeian, F; Taghipour‐Sheshdeh, Afsaneh; Mohammadi-Asl, Javad; Tabatabaiefar, Mohammad Amin; Chaleshtori, Morteza Hashemzadeh

doi:10.1080/14992027.2019.1619945

Cited by 3 publications

(3 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…One of these families was reported to have members with either DFNB4 or atypical PDS; the individuals from the other family were found to have severe to profound HL [ 17 ]. Moreover, three studies were reported from the Iranian population and described variable inter- and intra-familial manifestations in the SLC26A4 -related phenotypes [ 18 , 19 , 20 ]. Collectively, these findings highlight that inter-and intra-familial variability of SLC26A4- related phenotypes in the Middle East region can be evident in reports of certain countries but not others.…”

Section: Discussionmentioning

confidence: 99%

“…Only a few studies have been reported from Middle Eastern countries investigating the phenotypes associated with SLC26A4 [ 16 , 17 , 18 , 19 , 20 ]. These studies were conducted on patients from the United Arab Emirates (UAE), Iran, and Palestine [ 16 , 17 , 18 , 19 , 20 ]. Interestingly, intra- and inter-familial variabilities were observed in some of these studies.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management

Tawalbeh

Aburizeg

Alragheb

et al. 2022

Genes

View full text Add to dashboard Cite

SLC26A4 is one of the most common genes causing autosomal recessive non-syndromic sensorineural hearing loss (SNHL). It has been reported to cause Pendred Syndrome (PDS) and DFNB4 which is deafness with enlarged vestibular aqueduct (EVA). However, mutated SLC26A4 is not conclusive for having either DFNB4 or PDS. Three unrelated Jordanian families consisting of eight affected individuals with congenital bilateral hearing loss (HL) participated in this study. Whole-exome and Sanger sequencing were performed to investigate the underlying molecular etiology of HL. Further clinical investigations, including laboratory blood workup for the thyroid gland, CT scan for the temporal bone, and thyroid ultrasound were performed. Three disease-causing variants were identified in SLC26A4 in the three families, two of which were novel. Two families had a novel pathogenic homozygous splice-site accepter variant (c.165-1G>C), while the third family had compound heterozygous pathogenic variants (c.1446G>A; p.Trp482* and c.304G>A; p.Gly102Arg). Our approach helped in redirecting the diagnosis of several affected members of three different families from non-syndromic HL to syndromic HL. Two of the affected individuals had typical PDS, one had DFNB4, while the rest had atypical PDS. Our work emphasized the intra- and inter-familial variability of SLC26A4-related phenotypes. In addition, we highlighted the variable phenotypic impact of SLC26A4 on tailoring a personalized healthcare management.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management

Tawalbeh

Aburizeg

Alragheb

et al. 2022

Genes

View full text Add to dashboard Cite

show abstract

“…Hearing loss (HL) is the most common sensory defect affecting approximately 360 million people worldwide [Stevens et al, 2013]. HL is categorized as nonsyndromic (70%) or syndromic (30%) depending on the absence or presence of anomalies in other organs [Pourahmadiyan et al, 2019]. Autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct (EVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL) that is reported as severe to profound with vestibular dysfunction and temporal bone abnormalities such as bilateral EVA with or without cochlear hypoplasia.…”

Section: Introductionmentioning

confidence: 99%

Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct

et al. 2022

View full text Add to dashboard Cite

Pelger-Huet anomaly (PHA) is a benign hematological anomaly that is characterized by impaired lobulation of neutrophils with a coarse nuclear chromatin. Skeletal abnormalities may accompany this anomaly. Autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct (EVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL). We report a case with SNHL, multiple skeletal anomalies including osteochondroma, developmental delay, and PHA. Molecular studies revealed a heterozygous pathogenic variant in the LBR gene and a homozygous likely pathogenic variant in the SLC26A4 gene. Due to these 2 variants, he was diagnosed with PHA and DFNB4 with EVA. If goiter develops, DFNB4 with EVA is named Pendred syndrome (PDS), so the patient will be followed up for this condition, and in the current literature, there is no case with PDS and PHA co-existence either. PHA may be accompanied by multiple skeletal abnormalities. In our case, there is also concomitance with osteochondroma. Although these are independent and distinct diagnoses, we present this case due to the concomitance of these situations.

show abstract

Ataxia telangiectasia and Rad3-related protein inhibitors

Sahu,

Asati

et al. 2024

Current Molecular Targets of Heterocyclic Compounds for Cancer Therapy

View full text Add to dashboard Cite

A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family

Cited by 3 publications

References 39 publications

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management

Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct

Ataxia telangiectasia and Rad3-related protein inhibitors

Contact Info

Product

Resources

About